Articles, insights, and posts about Child Development, early detection, and new methods in diagnosis and treatment.
published as part of Access A.I.’s publication: “AI and Business: a Practical Guide.“ Our world is filled with data. Data on your shopping habits. Data on your physical health. Data on your genetics. The challenge of gaining insights lies not in a lack of data, but in a lack of using that data in a […]
This month in the Year of Discovery, FDNA spotlights syndromes categorized as RASopathies. Every case uploaded in March will be matched with a $1 donation sponsored by Blueprint Genetics and benefiting the Noonan Syndrome Foundation.* Every time a patient’s case is analyzed by Face2Gene, the de-identified information will train the system to recognize new associations […]
Abstract Number: (501)Case study: Next-generation phenotyping complementing next-generation sequencing Topic: Clinical GeneticsPresenting Author: Himanshu Goel Co-Authors: Z. Yüksel, Centogene AG, Rostock, Germany; N. Fleischer, FDNA Inc., Boston, MA, USA Session Type: Poster Presentation only Description: Introduction: The use of objective facial analysis using automated facial recognition technology could be considered a form of next-generation phenotyping that complements next-generation sequencing. Initial indications of […]
Abstract Number: (384)Bohring-Opitz Syndrome Patient Support Group An Essential Element for Optimizing Facial Dysmorphism Recognition Software Tool Topic: Clinical Genetics Presenting Author: Bianca Russell, MD, Cincinnati Children’s Hospital Co-Authors: S. van Gemert-Godbersen; S. Bermejo; A. Bromley; J. Graham, Jr, Cedar Sinai Medical Center Session Type: Poster Presentation only Description: Introduction: Bohring-Opitz Syndrome (BOS) is a rare genetic condition caused by mutations in ASXL1. […]
Dekel Gelbman, CEO of FDNA, was featured in Health Data Management discussing the value for hospitals of using clinical data warehouses for the storage and analysis of genomic and phenotypic information. Below is an excerpt: There are more than 7,000 rare diseases for physicians to consider when diagnosing a patient. For even the most experienced […]
FDNA’s Year of Discovery Initiative will spotlight a different genetic syndrome group each month as part of their mission to accelerate advancements and discoveries for all rare diseases. Boston, MA. March 9, 2017— FDNA launched the Year of Discovery on February 28th, 2017 to unite clinicians, labs and patients for rare disease advancements. March, the […]
Annual Clinical Genetics Meeting (ACMG 2017) Phoenix Convention Center, Phoenix, Arizona March 21-25, 2017 Phoenix, Arizona – With ACMG just over a week away, the FDNA team is growing increasingly excited to trade in our winter coats and boots for sunshine and cacti. But the escape from the everlasting Boston winter aside, is the anticipation to […]
Dekel Gelbman, CEO of FDNA, was featured in the Medical Device and Diagnostics Industry, discussing the value of facial analysis technology and phenotyping in discovering rare disease diagnoses. Below is an excerpt: Diagnosing rare and ultra-rare genetic diseases can be extremely difficult for geneticists. The diagnostic odyssey, from the primary point of care, through the […]
Dekel Gelbman, CEO of FDNA, was featured in Becker’s Hospital Review, discussing the value of phenotyping to hospitals involved in rare disease workflows. Below is an excerpt: Diagnosing rare diseases is like solving a puzzle, with physicians trying to fit together many complex clues. Unfortunately, the 10% of the population who suffer from a rare […]